TCGA-A1-A0SB_db9d40fb-bfce-4c3b-a6c2-41c5c88982f1_a3254f8e-3bbd-42fc-abea-a5f25b7648b3.oxoG.snp.capture.tcga.txt 23.6 KB
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#version 2.4
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_Position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_File	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	HGVSc	HGVSp	HGVSp_Short	Transcript_ID	Exon_Number	t_depth	t_ref_count	t_alt_count	n_depth	n_ref_count	n_alt_count	all_effects	Allele	Gene	Feature	Feature_type	Consequence	cDNA_position	CDS_position	Protein_position	Amino_acids	Codons	Existing_variation	ALLELE_NUM	DISTANCE	STRAND_VEP	SYMBOL	SYMBOL_SOURCE	HGNC_ID	BIOTYPE	CANONICAL	CCDS	ENSP	SWISSPROT	TREMBL	UNIPARC	RefSeq	SIFT	PolyPhen	EXON	INTRON	DOMAINS	AF	AFR_AF	AMR_AF	ASN_AF	EAS_AF	EUR_AF	SAS_AF	AA_AF	EA_AF	CLIN_SIG	SOMATIC	PUBMED	MOTIF_NAME	MOTIF_POS	HIGH_INF_POS	MOTIF_SCORE_CHANGE	IMPACT	PICK	VARIANT_CLASS	TSL	HGVS_OFFSET	PHENO	MINIMISED	ExAC_AF	ExAC_AF_AFR	ExAC_AF_AMR	ExAC_AF_EAS	ExAC_AF_FIN	ExAC_AF_NFE	ExAC_AF_OTH	ExAC_AF_SAS	GENE_PHENO	FILTER	flanking_bps	vcf_id	vcf_qual	ExAC_AF_Adj	ExAC_AC_AN_Adj	ExAC_AC_AN	ExAC_AC_AN_AFR	ExAC_AC_AN_AMR	ExAC_AC_AN_EAS	ExAC_AC_AN_FIN	ExAC_AC_AN_NFE	ExAC_AC_AN_OTH	ExAC_AC_AN_SAS	ExAC_FILTER	gnomAD_AF	gnomAD_AFR_AF	gnomAD_AMR_AF	gnomAD_ASJ_AF	gnomAD_EAS_AF	gnomAD_FIN_AF	gnomAD_NFE_AF	gnomAD_OTH_AF	gnomAD_SAS_AF	vcf_pos
SLC6A9	6536	.	GRCh37	1	44476442	44476442	+	Missense_Mutation	SNP	C	C	T			PRIMARY	NORMAL	C	C																c.362G>A	p.Gly121Asp	p.G121D	ENST00000360584	3/14	58	42	16	69	69	0	SLC6A9,missense_variant,p.Gly48Asp,ENST00000372310,NM_001024845.2;SLC6A9,missense_variant,p.Gly121Asp,ENST00000360584,NM_201649.3;SLC6A9,missense_variant,p.Gly67Asp,ENST00000357730,NM_006934.3,NM_001261380.1;SLC6A9,missense_variant,p.Gly48Asp,ENST00000372306,;SLC6A9,missense_variant,p.Gly102Asp,ENST00000466926,;SLC6A9,missense_variant,p.Gly67Asp,ENST00000528803,;SLC6A9,5_prime_UTR_variant,,ENST00000372307,;SLC6A9,intron_variant,,ENST00000475075,;SLC6A9,intron_variant,,ENST00000537678,;SLC6A9,intron_variant,,ENST00000492434,;SLC6A9,downstream_gene_variant,,ENST00000533007,;SLC6A9,non_coding_transcript_exon_variant,,ENST00000489764,;	T	ENSG00000196517	ENST00000360584	Transcript	missense_variant	554/2330	362/2121	121/706	G/D	gGc/gAc	COSV62211565	1		-1	SLC6A9	HGNC	11056	protein_coding	YES	CCDS41317.1	ENSP00000353791	P48067	B7Z589	UPI000053030B	NM_201649.3	deleterious(0)	probably_damaging(1)	3/14		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,PANTHER:PTHR11616:SF110,PANTHER:PTHR11616,Pfam:PF00209,Superfamily:0053687,Prints:PR00176											1						MODERATE	1	SNV			1										1	PASS	GCC	.	43																					44476442
ADSS	159	.	GRCh37	1	244583577	244583577	+	Missense_Mutation	SNP	G	G	T	novel		PRIMARY	NORMAL	G	G																c.685C>A	p.Pro229Thr	p.P229T	ENST00000366535	8/13	36	33	3	77	77	0	ADSS,missense_variant,p.Pro229Thr,ENST00000366535,NM_001126.3;ADSS,non_coding_transcript_exon_variant,,ENST00000462358,;ADSS,upstream_gene_variant,,ENST00000468215,;	T	ENSG00000035687	ENST00000366535	Transcript	missense_variant	1002/2780	685/1371	229/456	P/T	Cca/Aca		1		-1	ADSS	HGNC	292	protein_coding	YES	CCDS1624.1	ENSP00000355493	P30520		UPI0000132AF5	NM_001126.3	deleterious(0.02)	probably_damaging(0.983)	8/13		HAMAP:MF_00011,HAMAP:MF_03127,PANTHER:PTHR11846:SF1,PANTHER:PTHR11846,Gene3D:2v40A01,TIGRFAM:TIGR00184,Pfam:PF00709,SMART:SM00788,Superfamily:SSF52540																	MODERATE	1	SNV														PASS	GGT	.	6																					244583577
DTNB	1838	.	GRCh37	2	25678299	25678299	+	Missense_Mutation	SNP	C	C	T	rs1230449080		PRIMARY	NORMAL	C	C																c.1144G>A	p.Val382Met	p.V382M	ENST00000406818	11/21	17	9	8	33	33	0	DTNB,missense_variant,p.Val382Met,ENST00000406818,NM_001256303.1,NM_021907.4;DTNB,missense_variant,p.Val382Met,ENST00000407661,NM_183360.2,NM_001256304.1;DTNB,missense_variant,p.Val382Met,ENST00000404103,NM_033147.3;DTNB,missense_variant,p.Val382Met,ENST00000288642,;DTNB,missense_variant,p.Val325Met,ENST00000496972,NM_001256308.1;DTNB,missense_variant,p.Val178Met,ENST00000545439,;DTNB,intron_variant,,ENST00000405222,NM_183361.2;DTNB,intron_variant,,ENST00000407038,NM_033148.3;DTNB,intron_variant,,ENST00000407186,;DTNB,intron_variant,,ENST00000481841,;DTNB,intron_variant,,ENST00000486555,;DTNB,intron_variant,,ENST00000489756,;DTNB,3_prime_UTR_variant,,ENST00000398951,;DTNB,non_coding_transcript_exon_variant,,ENST00000485845,;DTNB,non_coding_transcript_exon_variant,,ENST00000479898,;DTNB,intron_variant,,ENST00000356599,;DTNB,intron_variant,,ENST00000482145,;	T	ENSG00000138101	ENST00000406818	Transcript	missense_variant	1394/2474	1144/1884	382/627	V/M	Gtg/Atg	rs1230449080,COSV56481440	1		-1	DTNB	HGNC	3058	protein_coding	YES	CCDS46237.1	ENSP00000384084	O60941	Q53TC8,Q53T51,Q53SF9,Q53QV1,F8W9U0,E9PE76,E7ES64	UPI0000129949	NM_001256303.1,NM_021907.4	deleterious(0.03)	benign(0.379)	11/21		PANTHER:PTHR11915:SF227,PANTHER:PTHR11915,PIRSF:PIRSF038204											0,1						MODERATE	1	SNV			0,1											PASS	ACA	.	24																					25678299
CADM2	253559	.	GRCh37	3	85932472	85932472	+	Silent	SNP	C	C	T	rs747906551		PRIMARY	NORMAL	C	C																c.249C>T	p.Arg83=	p.R83=	ENST00000405615	3/10	37	18	19	50	50	0	CADM2,synonymous_variant,p.Arg90=,ENST00000383699,NM_001167675.1,NM_001256504.1,NM_001256505.1;CADM2,synonymous_variant,p.Arg81=,ENST00000407528,NM_001167674.1;CADM2,synonymous_variant,p.Arg83=,ENST00000405615,NM_153184.3;	T	ENSG00000175161	ENST00000405615	Transcript	synonymous_variant	249/1314	249/1314	83/437	R	cgC/cgT	rs747906551,COSV67367857	1		1	CADM2	HGNC	29849	protein_coding	YES	CCDS33792.1	ENSP00000384193	Q8N3J6	G3XHN8	UPI000013F077	NM_153184.3			3/10		Gene3D:2.60.40.10,Pfam:PF07686,PROSITE_profiles:PS50835,PANTHER:PTHR23277,PANTHER:PTHR23277:SF56,SMART:SM00408,SMART:SM00409,Superfamily:SSF48726											0,1						LOW	1	SNV			0,1											PASS	GCG	.	56												1.595e-05			0.000298			8.821e-06			85932472
BLOC1S5-TXNDC5	0	.	GRCh37	6	7986778	7986778	+	Intron	SNP	G	G	A	rs1418108697		PRIMARY	NORMAL	G	G																c.372+39822C>T			ENST00000439343		23	13	10	23	23	0	TXNDC5,intron_variant,,ENST00000539054,;BLOC1S5-TXNDC5,intron_variant,,ENST00000439343,;PIP5K1P1,non_coding_transcript_exon_variant,,ENST00000460661,;PIP5K1P1,non_coding_transcript_exon_variant,,ENST00000438779,;	A	ENSG00000259040	ENST00000439343	Transcript	intron_variant,NMD_transcript_variant						rs1418108697	1		-1	BLOC1S5-TXNDC5	HGNC	42001	nonsense_mediated_decay	YES		ENSP00000454697		H3BN57	UPI0001B793F7					4/12																		MODIFIER		SNV														PASS	CGG	.	27												4.655e-06								3.517e-05	7986778
POR	5447	.	GRCh37	7	75609837	75609837	+	Intron	SNP	C	C	G	rs373201804		PRIMARY	NORMAL	C	C																c.516+31C>G			ENST00000461988		11	6	5	8	8	0	POR,missense_variant,p.Arg156Gly,ENST00000447222,;POR,missense_variant,p.Arg4Gly,ENST00000450476,;POR,intron_variant,,ENST00000394893,;POR,intron_variant,,ENST00000419840,;POR,intron_variant,,ENST00000439963,;POR,intron_variant,,ENST00000461988,NM_000941.2;POR,intron_variant,,ENST00000545601,;POR,downstream_gene_variant,,ENST00000412521,;POR,downstream_gene_variant,,ENST00000414186,;POR,downstream_gene_variant,,ENST00000426184,;POR,downstream_gene_variant,,ENST00000432753,;POR,upstream_gene_variant,,ENST00000439269,;POR,downstream_gene_variant,,ENST00000439297,;POR,downstream_gene_variant,,ENST00000453773,;POR,downstream_gene_variant,,ENST00000475509,;POR,3_prime_UTR_variant,,ENST00000448410,;POR,intron_variant,,ENST00000412064,;POR,intron_variant,,ENST00000454934,;POR,upstream_gene_variant,,ENST00000460892,;POR,downstream_gene_variant,,ENST00000471238,;POR,upstream_gene_variant,,ENST00000487247,;POR,upstream_gene_variant,,ENST00000495770,;POR,upstream_gene_variant,,ENST00000496888,;	G	ENSG00000127948	ENST00000461988	Transcript	intron_variant						rs373201804	1		1	POR	HGNC	9208	protein_coding	YES	CCDS5579.1	ENSP00000419970	P16435	Q59ED7,E7EMD0,C9JQ78	UPI000013D5F4	NM_000941.2				5/15																		MODIFIER	1	SNV													1	PASS	CCG	.	13																					75609837
ZNF777	27153	.	GRCh37	7	149129243	149129243	+	Missense_Mutation	SNP	G	G	A			PRIMARY	NORMAL	G	G																c.2120C>T	p.Ser707Leu	p.S707L	ENST00000247930	6/6	27	21	6	18	18	0	ZNF777,missense_variant,p.Ser707Leu,ENST00000247930,NM_015694.2;	A	ENSG00000196453	ENST00000247930	Transcript	missense_variant	2444/3233	2120/2496	707/831	S/L	tCg/tTg	COSV56098152	1		-1	ZNF777	HGNC	22213	protein_coding	YES	CCDS43675.1	ENSP00000247930	Q9ULD5	Q3KR11	UPI0000E9B152	NM_015694.2	tolerated(0.13)	probably_damaging(0.986)	6/6		PROSITE_profiles:PS50157,PANTHER:PTHR24402:SF204,PANTHER:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART:SM00355,Superfamily:SSF57667											1						MODERATE	1	SNV			1											PASS	CGA	.	16																					149129243
AGAP3	116988	.	GRCh37	7	150840441	150840441	+	Missense_Mutation	SNP	C	C	T	rs372948404		PRIMARY	NORMAL	C	C																c.2287C>T	p.Arg763Cys	p.R763C	ENST00000397238	17/18	24	15	9	28	28	0	AGAP3,missense_variant,p.Arg763Cys,ENST00000397238,NM_031946.5;AGAP3,missense_variant,p.Arg432Cys,ENST00000463381,NM_001281300.1;AGAP3,missense_variant,p.Arg256Cys,ENST00000461065,;AGAP3,non_coding_transcript_exon_variant,,ENST00000473633,;,regulatory_region_variant,,ENSR00001415095,;	T	ENSG00000133612	ENST00000397238	Transcript	missense_variant	2287/3225	2287/2736	763/911	R/C	Cgc/Tgc	rs372948404	1		1	AGAP3	HGNC	16923	protein_coding	YES	CCDS43681.1	ENSP00000380413	Q96P47	Q96T14,D3DX07	UPI0000DAC777	NM_031946.5	deleterious(0.01)	possibly_damaging(0.799)	17/18		Pfam:PF01412,PROSITE_profiles:PS50115,PANTHER:PTHR23180,PANTHER:PTHR23180:SF198,SMART:SM00105,Superfamily:SSF57863								0.0002372	0.0001179								MODERATE	1	SNV														PASS	ACG	.	26												6.472e-05	0.0001292			5.565e-05		5.372e-05	0.0001668	0.0001977	150840441
ABLIM1	3983	.	GRCh37	10	116247760	116247760	+	Missense_Mutation	SNP	T	T	C			PRIMARY	NORMAL	T	T																c.998A>G	p.His333Arg	p.H333R	ENST00000277895	8/23	45	34	11	72	72	0	ABLIM1,missense_variant,p.His273Arg,ENST00000369252,NM_001003408.1,NM_001003407.1;ABLIM1,missense_variant,p.His273Arg,ENST00000533213,;ABLIM1,missense_variant,p.His17Arg,ENST00000392952,NM_006720.3;ABLIM1,missense_variant,p.His17Arg,ENST00000369266,;ABLIM1,missense_variant,p.His333Arg,ENST00000277895,NM_002313.5;ABLIM1,missense_variant,p.His17Arg,ENST00000369253,;ABLIM1,missense_variant,p.His17Arg,ENST00000428430,;ABLIM1,upstream_gene_variant,,ENST00000440467,;ABLIM1,missense_variant,p.His273Arg,ENST00000392955,;ABLIM1,missense_variant,p.His273Arg,ENST00000369256,;,regulatory_region_variant,,ENSR00000990007,;	C	ENSG00000099204	ENST00000277895	Transcript	missense_variant	1096/2657	998/2337	333/778	H/R	cAt/cGt	COSV53311631	1		-1	ABLIM1	HGNC	78	protein_coding	YES	CCDS7590.1	ENSP00000277895	O14639		UPI0000418D06	NM_002313.5	deleterious(0)	possibly_damaging(0.887)	8/23		Gene3D:2.10.110.10,PROSITE_profiles:PS50023,PANTHER:PTHR24213,PANTHER:PTHR24213:SF18,SMART:SM00132,Superfamily:SSF57716											1						MODERATE	1	SNV			1											PASS	ATG	.	26																					116247760
ADAMTS20	80070	.	GRCh37	12	43944926	43944926	+	Missense_Mutation	SNP	T	T	C			PRIMARY	NORMAL	T	T																c.239A>G	p.Tyr80Cys	p.Y80C	ENST00000389420	2/39	32	17	15	50	50	0	ADAMTS20,missense_variant,p.Tyr80Cys,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Tyr80Cys,ENST00000553158,;,regulatory_region_variant,,ENSR00001029344,;	C	ENSG00000173157	ENST00000389420	Transcript	missense_variant	239/6076	239/5733	80/1910	Y/C	tAt/tGt	COSV67136109	1		-1	ADAMTS20	HGNC	17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	deleterious(0)	probably_damaging(0.986)	2/39		Pfam:PF01562,PANTHER:PTHR13723,PANTHER:PTHR13723:SF165											1						MODERATE	1	SNV			1											PASS	ATA	.	44																					43944926
RNY4P30	0	.	GRCh37	13	50464902	50464902	+	5'Flank	SNP	T	T	C	novel		PRIMARY	NORMAL	T	T																			ENST00000410216		65	60	5	75	75	0	RNY4P30,upstream_gene_variant,,ENST00000410216,;CTAGE10P,non_coding_transcript_exon_variant,,ENST00000318353,;	C	ENSG00000222148	ENST00000410216	Transcript	upstream_gene_variant							1	1038	-1	RNY4P30	HGNC	42498	misc_RNA	YES																												MODIFIER		SNV														PASS	TTG	.	8																					50464902
SPTB	6710	.	GRCh37	14	65266493	65266493	+	Missense_Mutation	SNP	T	T	C			PRIMARY	NORMAL	T	T																c.1036A>G	p.Thr346Ala	p.T346A	ENST00000389722	8/35	20	12	8	21	21	0	SPTB,missense_variant,p.Thr346Ala,ENST00000389722,NM_001024858.2;SPTB,missense_variant,p.Thr346Ala,ENST00000556626,;SPTB,missense_variant,p.Thr346Ala,ENST00000542895,;SPTB,missense_variant,p.Thr346Ala,ENST00000389721,NM_000347.5;SPTB,missense_variant,p.Thr346Ala,ENST00000389720,;,regulatory_region_variant,,ENSR00001568868,;	C	ENSG00000070182	ENST00000389722	Transcript	missense_variant	1090/10063	1036/6987	346/2328	T/A	Acc/Gcc	COSV67633870	1		-1	SPTB	HGNC	11274	protein_coding	YES	CCDS32099.1	ENSP00000374372	P11277	Q71VG2,Q71VG1,Q71VG0,Q71VF9,Q71VF8,Q59FP5,O14726,O14725	UPI000053030D	NM_001024858.2	tolerated(0.28)	benign(0.074)	8/35		Gene3D:1.20.58.60,Pfam:PF00435,PIRSF:PIRSF002297,PANTHER:PTHR11915,PANTHER:PTHR11915:SF248,SMART:SM00150,Superfamily:SSF46966											1						MODERATE	1	SNV			1										1	PASS	GTG	.	20																					65266493
IQGAP1	8826	.	GRCh37	15	91043489	91043489	+	3'UTR	SNP	C	C	T	rs922590103		PRIMARY	NORMAL	C	C																c.*149C>T			ENST00000268182	38/38	6	3	3	18	18	0	IQGAP1,3_prime_UTR_variant,,ENST00000268182,NM_003870.3;IQGAP1,3_prime_UTR_variant,,ENST00000560738,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000561086,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000558957,;	T	ENSG00000140575	ENST00000268182	Transcript	3_prime_UTR_variant	5247/7233					rs922590103	1		1	IQGAP1	HGNC	6110	protein_coding	YES	CCDS10362.1	ENSP00000268182	P46940	H0YKA5	UPI000012D863	NM_003870.3			38/38																			MODIFIER	1	SNV														PASS	TCT	.	9																					91043489
PIEZO1	9780	.	GRCh37	16	88790292	88790292	+	Missense_Mutation	SNP	T	T	C			PRIMARY	NORMAL	T	T																c.4322A>G	p.Gln1441Arg	p.Q1441R	ENST00000301015	31/51	25	18	7	34	34	0	PIEZO1,missense_variant,p.Gln1441Arg,ENST00000301015,NM_001142864.2;PIEZO1,missense_variant,p.Gln115Arg,ENST00000474606,;PIEZO1,upstream_gene_variant,,ENST00000327397,;PIEZO1,upstream_gene_variant,,ENST00000466823,;RP5-1142A6.9,downstream_gene_variant,,ENST00000564984,;PIEZO1,non_coding_transcript_exon_variant,,ENST00000566414,;PIEZO1,upstream_gene_variant,,ENST00000419505,;PIEZO1,downstream_gene_variant,,ENST00000475586,;PIEZO1,downstream_gene_variant,,ENST00000491917,;PIEZO1,upstream_gene_variant,,ENST00000495568,;PIEZO1,upstream_gene_variant,,ENST00000497793,;	C	ENSG00000103335	ENST00000301015	Transcript	missense_variant	4569/8072	4322/7566	1441/2521	Q/R	cAg/cGg	COSV56341017	1		-1	PIEZO1	HGNC	28993	protein_coding	YES	CCDS54058.1	ENSP00000301015	Q92508		UPI0001B300F3	NM_001142864.2	tolerated(0.25)	possibly_damaging(0.78)	31/51		PANTHER:PTHR13167,PANTHER:PTHR13167:SF40											1						MODERATE	1	SNV			1										1	PASS	CTG	.	20																					88790292
KAT2A	2648	.	GRCh37	17	40272381	40272381	+	Silent	SNP	G	G	A	rs536716483		PRIMARY	NORMAL	G	G																c.471C>T	p.His157=	p.H157=	ENST00000225916	3/18	61	29	32	35	35	0	KAT2A,synonymous_variant,p.His157=,ENST00000225916,NM_021078.2;CTD-2132N18.3,synonymous_variant,p.His191=,ENST00000592574,;RAB5C,downstream_gene_variant,,ENST00000346213,NM_004583.3;HSPB9,upstream_gene_variant,,ENST00000355067,NM_033194.2;RAB5C,downstream_gene_variant,,ENST00000393860,NM_201434.2;CTD-2132N18.3,missense_variant,p.Thr150Met,ENST00000592248,;KAT2A,synonymous_variant,p.His75=,ENST00000465682,;CTD-2132N18.3,3_prime_UTR_variant,,ENST00000585562,;KAT2A,upstream_gene_variant,,ENST00000588759,;KAT2A,upstream_gene_variant,,ENST00000592310,;	A	ENSG00000108773	ENST00000225916	Transcript	synonymous_variant	525/3109	471/2514	157/837	H	caC/caT	rs536716483,COSV56792144	1		-1	KAT2A	HGNC	4201	protein_coding	YES	CCDS11417.1	ENSP00000225916	Q92830	K7ERS6	UPI000000D978	NM_021078.2			3/18		PANTHER:PTHR22880:SF124,PANTHER:PTHR22880,Pfam:PF06466,PIRSF:PIRSF003048	0.0002				0.001						0,1						LOW	1	SNV			0,1											PASS	CGT	.	99												2.386e-05		2.892e-05		0.0001087		2.638e-05			40272381
ZNF574	64763	.	GRCh37	19	42585066	42585066	+	Missense_Mutation	SNP	G	G	A			PRIMARY	NORMAL	G	G																c.2308G>A	p.Asp770Asn	p.D770N	ENST00000600245	2/2	25	18	7	19	19	0	ZNF574,missense_variant,p.Asp770Asn,ENST00000600245,;ZNF574,missense_variant,p.Asp860Asn,ENST00000222339,;ZNF574,missense_variant,p.Asp770Asn,ENST00000359044,NM_022752.5;ZNF574,downstream_gene_variant,,ENST00000597391,;CTB-59C6.3,upstream_gene_variant,,ENST00000594531,;	A	ENSG00000105732	ENST00000600245	Transcript	missense_variant	2963/3598	2308/2691	770/896	D/N	Gac/Aac	COSV55905712,COSV55906893,COSV55907568	1		1	ZNF574	HGNC	26166	protein_coding	YES	CCDS12596.1	ENSP00000469029	Q6ZN55	Q9NT61,M0R133	UPI00001AE536		deleterious(0.01)	probably_damaging(0.917)	2/2		Gene3D:3.30.160.60,Pfam:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PANTHER:PTHR24375,PANTHER:PTHR24375:SF38,SMART:SM00355,Superfamily:SSF57667											1,1,1						MODERATE	1	SNV			1,1,1											PASS	AGA	.	17																					42585066
OTOR	56914	.	GRCh37	20	16730581	16730581	+	Missense_Mutation	SNP	G	G	A	rs776130394		PRIMARY	NORMAL	G	G																c.289G>A	p.Val97Met	p.V97M	ENST00000246081	3/4	43	35	8	52	52	0	OTOR,missense_variant,p.Val97Met,ENST00000246081,NM_020157.3;OTOR,non_coding_transcript_exon_variant,,ENST00000486129,;OTOR,intron_variant,,ENST00000490148,;,regulatory_region_variant,,ENSR00001640104,;	A	ENSG00000125879	ENST00000246081	Transcript	missense_variant	333/1477	289/387	97/128	V/M	Gtg/Atg	rs776130394,COSV55722123	1		1	OTOR	HGNC	8517	protein_coding	YES	CCDS13124.1	ENSP00000246081	Q9NRC9		UPI0000047809	NM_020157.3	deleterious(0)	probably_damaging(0.961)	3/4		PANTHER:PTHR23158,Gene3D:2.30.30.40,Pfam:PF07653,SMART:SM00326,Superfamily:SSF50044											0,1						MODERATE	1	SNV			0,1											PASS	CGT	.	21												1.593e-05				0.000109		1.761e-05			16730581
IGLV2-23	0	.	GRCh37	22	23040479	23040479	+	Missense_Mutation	SNP	C	C	G	novel		PRIMARY	NORMAL	C	C																c.44C>G	p.Thr15Arg	p.T15R	ENST00000390306	1/2	25	12	13	23	23	0	IGLV2-23,missense_variant,p.Thr15Arg,ENST00000390306,;D86994.1,non_coding_transcript_exon_variant,,ENST00000385095,;LL22NC03-102D1.18,upstream_gene_variant,,ENST00000438185,;IGLV3-24,downstream_gene_variant,,ENST00000517477,;IGLVVI-22-1,upstream_gene_variant,,ENST00000521183,;	G	ENSG00000211660	ENST00000390306	Transcript	missense_variant,splice_region_variant	206/502	44/340	15/113	T/R	aCa/aGa		1		1	IGLV2-23	HGNC	5890	IG_V_gene	YES		ENSP00000374841			UPI000173A2CA		deleterious_low_confidence(0)	possibly_damaging(0.852)	1/2		Cleavage_site_(Signalp):SignalP-noTM,PANTHER:PTHR23267:SF138,PANTHER:PTHR23267																	MODERATE	1	SNV														PASS	ACA	.	41																					23040479
NUDT10	170685	.	GRCh37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs2801626		PRIMARY	NORMAL	G	G																c.207G>A	p.Glu69=	p.E69=	ENST00000376006	2/3	44	41	3	78	77	1	NUDT10,synonymous_variant,p.Glu69=,ENST00000376006,NM_153183.2;NUDT10,synonymous_variant,p.Glu69=,ENST00000356450,;,regulatory_region_variant,,ENSR00000423420,;	A	ENSG00000122824	ENST00000376006	Transcript	synonymous_variant	427/2001	207/495	69/164	E	gaG/gaA	rs2801626,COSV62853869	1		1	NUDT10	HGNC	17621	protein_coding	YES	CCDS35278.1	ENSP00000365174	Q8NFP7		UPI000006D69E	NM_153183.2			2/3		Gene3D:3.90.79.10,Pfam:PF00293,PROSITE_patterns:PS00893,PROSITE_profiles:PS51462,PANTHER:PTHR12629,PANTHER:PTHR12629:SF2,Superfamily:SSF55811											0,1						LOW	1	SNV			0,1											PASS	AGG	rs143435240	6												0.000682	0.0004641	3.658e-05		0.0007976	0.0002512	0.001234	0.0004457		51076024
COX7B	1349	.	GRCh37	X	77160816	77160816	+	3'UTR	SNP	A	A	G	rs782235659		PRIMARY	NORMAL	A	A																c.*58A>G			ENST00000481445	3/3	23	20	3	51	51	0	COX7B,3_prime_UTR_variant,,ENST00000481445,NM_001866.2;COX7B,downstream_gene_variant,,ENST00000373335,;COX7B,downstream_gene_variant,,ENST00000475465,;	G	ENSG00000131174	ENST00000481445	Transcript	3_prime_UTR_variant	417/2471					rs782235659,COSV64864574	1		1	COX7B	HGNC	2291	protein_coding	YES	CCDS14437.1	ENSP00000417656	P24311		UPI0000049C75	NM_001866.2			3/3													0,1						MODIFIER	1	SNV			0,1										1	PASS	AAT	.	7																					77160816
COX7B	1349	.	GRCh37	X	77160852	77160852	+	3'UTR	SNP	T	T	A	rs1557221045		PRIMARY	NORMAL	T	T																c.*94T>A			ENST00000481445	3/3	17	14	3	35	35	0	COX7B,3_prime_UTR_variant,,ENST00000481445,NM_001866.2;COX7B,downstream_gene_variant,,ENST00000373335,;COX7B,downstream_gene_variant,,ENST00000475465,;	A	ENSG00000131174	ENST00000481445	Transcript	3_prime_UTR_variant	453/2471					rs1557221045	1		1	COX7B	HGNC	2291	protein_coding	YES	CCDS14437.1	ENSP00000417656	P24311		UPI0000049C75	NM_001866.2			3/3																			MODIFIER	1	SNV													1	PASS	ATT	.	7																					77160852
P2RY10	27334	.	GRCh37	X	78216689	78216689	+	Silent	SNP	C	C	T	rs866278031		PRIMARY	NORMAL	C	C																c.672C>T	p.Ser224=	p.S224=	ENST00000171757	4/4	54	44	10	63	63	0	P2RY10,synonymous_variant,p.Ser224=,ENST00000171757,NM_014499.2;P2RY10,synonymous_variant,p.Ser224=,ENST00000544091,NM_198333.1;P2RY10,downstream_gene_variant,,ENST00000461541,;P2RY10,downstream_gene_variant,,ENST00000475374,;	T	ENSG00000078589	ENST00000171757	Transcript	synonymous_variant	952/1714	672/1020	224/339	S	tcC/tcT	rs866278031,COSV50681285,COSV50683757	1		1	P2RY10	HGNC	19906	protein_coding	YES	CCDS14442.1	ENSP00000171757	O00398		UPI0000050471	NM_014499.2			4/4		Gene3D:1.20.1070.10,Pfam:PF00001,PROSITE_profiles:PS50262,PANTHER:PTHR24232,PANTHER:PTHR24232:SF6,Superfamily:SSF81321											0,1,1						LOW	1	SNV			0,1,1											PASS	CCT	.	26																					78216689
THOC2	57187	.	GRCh37	X	122757148	122757148	+	Intron	SNP	A	A	T	novel		PRIMARY	NORMAL	A	A																c.3504-14T>A			ENST00000245838		13	10	3	48	48	0	THOC2,intron_variant,,ENST00000245838,NM_001081550.1;THOC2,intron_variant,,ENST00000355725,;THOC2,intron_variant,,ENST00000438358,;THOC2,intron_variant,,ENST00000491737,;THOC2,upstream_gene_variant,,ENST00000416618,;THOC2,upstream_gene_variant,,ENST00000441692,;THOC2,upstream_gene_variant,,ENST00000448128,;THOC2,upstream_gene_variant,,ENST00000497887,;THOC2,non_coding_transcript_exon_variant,,ENST00000459945,;THOC2,upstream_gene_variant,,ENST00000432353,;THOC2,downstream_gene_variant,,ENST00000464161,;THOC2,upstream_gene_variant,,ENST00000464604,;THOC2,upstream_gene_variant,,ENST00000464982,;THOC2,upstream_gene_variant,,ENST00000464992,;THOC2,upstream_gene_variant,,ENST00000496830,;	T	ENSG00000125676	ENST00000245838	Transcript	intron_variant							1		-1	THOC2	HGNC	19073	protein_coding	YES	CCDS43988.1	ENSP00000245838	Q8NI27		UPI00001D7C42	NM_001081550.1				28/38																		MODIFIER	1	SNV													1	PASS	CAA	.	6																					122757148
ZFP92	139735	.	GRCh37	X	152684244	152684244	+	Missense_Mutation	SNP	T	T	G	novel		PRIMARY	NORMAL	T	T																c.147T>G	p.His49Gln	p.H49Q	ENST00000338647	2/4	51	48	3	62	62	0	ZFP92,missense_variant,p.His49Gln,ENST00000338647,NM_001136273.1;U82695.10,upstream_gene_variant,,ENST00000569962,;	G	ENSG00000189420	ENST00000338647	Transcript	missense_variant	148/1253	147/1251	49/416	H/Q	caT/caG		1		1	ZFP92	HGNC	12865	protein_coding	YES	CCDS59177.1	ENSP00000462054	A6NM28		UPI000052B478	NM_001136273.1	deleterious(0.03)	probably_damaging(0.913)	2/4		Superfamily:0044637,Pfam:PF01352,PROSITE_profiles:PS50805,PANTHER:PTHR24375,PANTHER:PTHR24375:SF97,SMART:SM00349																	MODERATE	1	SNV														PASS	ATT	.	6																					152684244